Jing Xiangyi, Zhang Lei, Li Ru, Zhang Yongling, Li Fucheng, Yi Cuixing, Liao Can
Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Centre, Guangzhou Medical University, Guangzhou, Guangdong 510623, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Jul 10;36(7):672-675. doi: 10.3760/cma.j.issn.1003-9406.2019.07.004.
To explore the genetic basis for three patients with development delay and to correlate their clinical phenotypes with genetic findings.
The karyotypes of the probands and their parents were analyzed by conventional G-banding. Chromosomal microarray analysis (CMA) was used to detect microdeletion and microduplication.
No kartotypic abnormality was detected in the patients and their parents. CMA analysis identified a de novo 3.10 Mb deletion on chromosome 15q24.1q24.2 in case 1, a de novo 3.14 Mb deletion at 15q24.1q24.2 in case 2, and a 3.13 Mb deletion at 15q24.1q24.2 in case 3. All deletions have encompassed the CPLX3,SEMA7A and SIN3A genes.
The three patients were diagnosed with 15q24 microdeletion syndrome. CPLX3,SEMA7A and SIN3A may be the key genes responsible for this syndrome.
探究三名发育迟缓患者的遗传基础，并将其临床表型与遗传结果相关联。
采用常规G显带技术分析先证者及其父母的核型。运用染色体微阵列分析（CMA）检测微缺失和微重复。
患者及其父母未检测到核型异常。CMA分析在病例1中鉴定出15号染色体q24.1q24.2区域有一个3.10 Mb的新发缺失，病例2中该区域有一个3.14 Mb的新发缺失，病例3中该区域有一个3.13 Mb的缺失。所有缺失均包含CPLX3、SEMA7A和SIN3A基因。
这三名患者被诊断为15q24微缺失综合征。CPLX3、SEMA7A和SIN3A可能是导致该综合征的关键基因。
